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Table 2 Muscle punch biopsies subjected to pathological analyses, and for generation of muscle satellite cells for in vitro studies

From: Impaired signaling for neuromuscular synaptic maintenance is a feature of Motor Neuron Disease

Donor IDs

Sex

Age

Diagnosis

Mutation (if known)

Site of onset

ALSFRS-R (at biopsy)

No NMJs

Interval—Symptom Onset to Biopsy

Con-1

F

54

    

2$, 7*

 

Con-2

M

54

    

12$, 2*

 

Con-6

F

65

      

Con-7

M

65

      

Con-8

M

47

      

Con-9

M

61

      

Con-10

M

71

      

Con-11

F

65

      

Con-12

M

70

      

Con-13

M

44

      

Con-14

M

57

      

Con-15

M

32

      

Con-16

M

64

      

MND-2

M

47

Sporadic

 

Spinal

42

13$

7.8

MND-8

M

65

Sporadic

 

Spinal

25

 

2.9

MND-9

M

51

Familial

SOD1

Spinal

40

 

6.2

MND-10

M

47

Familial

C9orf72

Spinal

41

 

10.2

MND-11

M

49

Sporadic

 

Spinal

40

 

5.5

MND-12

M

54

Sporadic

 

Spinal

33

 

57.0

MND-13

M

53

Sporadic

 

Spinal

33

 

20.4

MND-14

F

58

Sporadic

 

Spinal

35

 

33.5

MND-15

M

79

Sporadic

 

Spinal

28

 

57.1

MND-16

M

46

Familial

C9orf72

Bulbar/Spinal

41

 

15.9

  1. Con = healthy donor control (Non-MND); ALSFRS-R—ALS Functional Rating Scale Revised; $Indicates NMJs found in intact muscle fiber samples; *Indicates NMJs found in cryosections